UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia

PloS one, 2013-01, Vol.8 (1), p.e53826-e53826

2013

Volltextzugriff (PDF)

MUSK, a new target for mutations causing congenital myasthenic syndrome

Human molecular genetics, 2004-12, Vol.13 (24), p.3229-3240

2004

Volltextzugriff (PDF)

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

American journal of human genetics, 2002-10, Vol.71 (4), p.739-749

2002

Volltextzugriff (PDF)

The origin of tubular aggregates in human myopathies

The Journal of pathology, 2005-11, Vol.207 (3), p.313-323

2005

Volltextzugriff (PDF)

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

Annals of neurology, 2002-06, Vol.51 (6), p.750-759

2002

Volltextzugriff (PDF)

SMARTCrane, a Fives’ Digital Solution for Aluminium Production Optimization

Light Metals 2024, p.568-576

Volltextzugriff (PDF)

Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation

Brain (London, England : 1878), 2006-05, Vol.129 (5), p.1249-1259

2006

Volltextzugriff (PDF)

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency

Neuromuscular disorders : NMD, 2003-03, Vol.13 (3), p.236-244

2003

Volltextzugriff (PDF)

Aseptic neutrophilic abscess of the vulva

Dermatology (Basel), 2006-01, Vol.212 (1), p.80-81

2006

Volltextzugriff (PDF)

A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis

Neuromuscular disorders : NMD, 2006-03, Vol.16 (3), p.178-182

2006

Volltextzugriff (PDF)

Abnormal Distribution of Calcium-Handling Proteins: A Novel Distinctive Marker in Core Myopathies

Journal of neuropathology and experimental neurology, 2007-01, Vol.66 (1), p.57-65

2007

Volltextzugriff (PDF)

Phosphonocationic Lipids in Protein Delivery to Mice Lungs

Journal of pharmaceutical sciences, 2000-05, Vol.89 (5), p.639-645

2000

Volltextzugriff (PDF)

Modulation of Cardiovascular Functions by Angiotensin II within the Brainstem of Conscious Trout, Oncorhynchus mykiss

Annals of the New York Academy of Sciences, 1998-05, Vol.839 (1), p.414-415

1998

Volltextzugriff (PDF)

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation

Neuromuscular disorders : NMD, 2004, Vol.14 (1), p.24-32

2004

Volltextzugriff (PDF)

Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency

Neuromuscular disorders : NMD, 2003-09, Vol.13 (7), p.545-553

2003

Volltextzugriff (PDF)

The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease

Human molecular genetics, 2016-04, Vol.25 (8), p.1559-1573

2016

Volltextzugriff (PDF)

Cationic phosphonolipids as nonviral gene transfer agents in the lungs of mice

Human gene therapy, 1998-11, Vol.9 (16), p.2309-2319

1998

Volltextzugriff (PDF)

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

Brain (London, England : 1878), 2003-11, Vol.126 (11), p.2341-2349

2003

Volltextzugriff (PDF)

Role of dorsal vagal motor nucleus in angiotensin II-mediated tachycardia in the conscious trout Oncorhynchus mykiss

Brain research, 1997-10, Vol.772 (1), p.167-175

1997

Volltextzugriff (PDF)

The binding of some human antiendothelial cell antibodies induces endothelial cell apoptosis

The Journal of clinical investigation, 1998-05, Vol.101 (10), p.2029-2035

1998

Volltextzugriff (PDF)

Caecum: A Potential Site for Studying Gene Transfer in vivo

Journal of liposome research, 2000-01, Vol.10 (1), p.61-71

2000

Volltextzugriff (PDF)

Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene

Neurology, 2006-12, Vol.67 (12), p.2217-2220

2006

Volltextzugriff (PDF)

AMP-deaminase in elasmobranch fish: A comparative histochemical and enzymatic study

Comparative Biochemistry and Physiology Part B: Biochemistry and Molecular Biology, 2005-08, Vol.141 (4), p.472-479

2005

Volltextzugriff (PDF)

Respiratory failure associated with hydroxychloroquine neuromyopathy

European neurology, 1995, Vol.35 (4), p.236-237

1995

Volltextzugriff (PDF)

1 – 25 von 211

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(182)
Mit Volltextzugriff
(187)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(129)
Life Sciences & Biomedicine
(113)
Humans
(95)
Life Sciences
(65)
Male
(59)
Female
(55)
Animals
(41)
Adult
(40)
Middle Aged
(38)
Biological And Medical Sciences
(36)
Aged
(30)
Infectious Diseases
(28)
Medical Sciences
(24)
Microbiology
(21)
Neurosciences & Neurology
(17)
Adolescent
(16)
Fundamental And Applied Biological Sciences. Psychology
(16)
Neurology
(16)
Clinical Neurology
(15)
Surgery
(15)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(3)

Menü

Weitere Dienste

Einstellungen

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia

MUSK, a new target for mutations causing congenital myasthenic syndrome

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

The origin of tubular aggregates in human myopathies

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

SMARTCrane, a Fives’ Digital Solution for Aluminium Production Optimization

Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency

Aseptic neutrophilic abscess of the vulva

A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis

Abnormal Distribution of Calcium-Handling Proteins: A Novel Distinctive Marker in Core Myopathies

Phosphonocationic Lipids in Protein Delivery to Mice Lungs

Modulation of Cardiovascular Functions by Angiotensin II within the Brainstem of Conscious Trout, Oncorhynchus mykiss

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation

Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency

The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease

Cationic phosphonolipids as nonviral gene transfer agents in the lungs of mice

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

Role of dorsal vagal motor nucleus in angiotensin II-mediated tachycardia in the conscious trout Oncorhynchus mykiss

The binding of some human antiendothelial cell antibodies induces endothelial cell apoptosis

Caecum: A Potential Site for Studying Gene Transfer in vivo

Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene

AMP-deaminase in elasmobranch fish: A comparative histochemical and enzymatic study

Respiratory failure associated with hydroxychloroquine neuromyopathy

Suchergebnisse filtern